Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies

1999/03/08 by R Estrada, R. Estrada, J Galarraga +5 · 26 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Ataxia #Atrophy #Biology #Central nervous system disease #Cerebellum #Degeneration (medical) #Degenerative disease #Dentate nucleus #Disease #Genetic Neurodegenerative Diseases #Machado–Joseph disease #Medicine #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Neocortex #Neuroscience #Olivopontocerebellar atrophy #Parkinson's disease #Pathology #Population #Spinocerebellar ataxia #Substantia nigra

paper · doi:10.1007/s004010050989

openalex publication_date 1999/03/08 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/26

Cited by

• Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2)
• Ataxin-2 mediated cell death is dependent on domains downstream of the polyQ repeat. [europepmc]
• Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells. [europepmc]
• MRI shows a region-specific pattern of atrophy in spinocerebellar ataxia type 2. [europepmc]
• Oxidative stress as a cofactor in spinocerebellar ataxia type 2. [europepmc]
• ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice. [europepmc]
• Genetic ablation of ataxin-2 increases several global translation factors in their transcript abundance but decreases translation rate. [europepmc]
• SCA2 predictive testing in Cuba: challenging concepts and protocol evolution. [europepmc]
• Extensive White Matter Alterations and Its Correlations with Ataxia Severity in SCA 2 Patients. [europepmc]
• The merit of proton magnetic resonance spectroscopy in the longitudinal assessment of spinocerebellar ataxias and multiple system atrophy-cerebellar type. [europepmc]
• Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway. [europepmc]
• Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation. [europepmc]
• Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders. [europepmc]
• Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review. [europepmc]
• Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. [europepmc]
• Polyglutamine spinocerebellar ataxias - from genes to potential treatments. [europepmc]
• Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches. [europepmc]
• Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2. [europepmc]
• In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism. [europepmc]
• Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion. [europepmc]
• Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule-Purkinje Neuron Synaptic Strength. [europepmc]
• n -Butylidenephthalide Modulates Autophagy to Ameliorate Neuropathological Progress of Spinocerebellar Ataxia Type 3 through mTOR Pathway. [europepmc]
• The Role of GM130 in Nervous System Diseases. [europepmc]
• TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2. [europepmc]
• Hereditary Ataxias: From Bench to Clinic, Where Do We Stand? [europepmc]
• The polyglutamine protein ATXN2: from its molecular functions to its involvement in disease. [europepmc]